Neuroimaging in Fabry disease: current knowledge and future directions

Area of Science:

• Neurology
• Radiology
• Genetics

Background:

• Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
• Globotriaosylceramide accumulation affects various cell types, including the central nervous system (CNS).
• CNS involvement in FD ranges from mild symptoms to severe cerebrovascular events.

Purpose of the Study:

• To review current knowledge on brain imaging in Fabry disease.
• To critically describe common neuroradiological findings.
• To report on advanced imaging techniques investigating FD brain physiopathology and suggest future research directions.

Main Methods:

• Review of existing literature on brain imaging in Fabry disease.
• Comprehensive description of conventional neuroradiological findings.
• Analysis of studies utilizing advanced imaging techniques for CNS assessment in FD.

Main Results:

• Conventional neuroradiological findings in FD are often non-specific.
• White matter hyperintensities are the most consistent brain imaging feature.
• Vascular wall abnormalities in the posterior circulation are also consistent; the pulvinar sign is unreliable.

Conclusions:

• Advanced imaging techniques have significantly improved understanding of CNS involvement in FD.
• Further exploration of CNS physiopathology using advanced imaging is warranted.
• While conventional findings are non-specific, imaging plays a crucial role in diagnosing and monitoring FD.